Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

• DOI: 10.1038/srep14696
• Publication Date: 2015-10-01T09:17:35Z
• Authors: Malgorzata Marcin...; Izabela Szczerbal; Hubert Pausch; Joanna Nowacka-Wo...; Krzysztof Flisiko...; Stanislaw Dzimira; Wojciech Nizanski; Rita Payan-Carreira; Ruedi Fries; Piotr Kozlowski; Marek Switonski
• Keywords: Testis determining factor; SOX9; Sex reversal

Abstract Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis still unclear. Among mutations underlying XX DSD mammals are duplication a long sequence upstream SOX9 gene (RevSex) and (also observed dogs). We performed comparative analysis 16 30 control dogs, using FISH MLPA approaches. Our study was focused on region harboring orthologous to human RevSex (CanRevSex), which located by silico downstream . Two highly polymorphic copy number variable regions (CNVRs): CNVR1 CNVR2 encompassing CanRevSex were identified. none detected variants specific either affected or animals, we that average copies higher DSD. No variation observed. extensive studies have excluded as common cause analyzed samples. However, it remains possible causative mutation hidden CNVR1.